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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PNKP

Variant:p.G292delFs

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PNKP

NM_007254.4:p.G292delFs

hg38:chr19:49862597 GT>G

Associated Papers

Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review.

Ragona F et al.

Neurosci, 2025

41283299 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."